Ataxia-Telangiectasia

I. Introduction.- Brief Historical Overview.- II. Isolation of A-T Gene(S).- Cloning and characterization of a candidate gene for A-T complementation Group D.- Precise localization of a gene responsible for ataxiatelangiectasia on chromosome 11q.- How many A-T genes?.- Isolation of human cDNAs that complement the ataxiatelangiectasia phenotype in cultured fibroblasts.- Complementation of the cellular A-T phenotype by gene transfer.- Use of microcell hybrids for analysis of the 11q23 region and improved localization of the A-T Group A/C genes.- AT-like radiosensitive rodent cell mutants: an alternative approach to the isolation of the A-T gene(s).- III. A-T Heterozygotes and Complementation.- Identification of A-T heterozygotes.- Correction of post-gamma ray DNA repair deficiency in ataxiatelangiectasia complementation group A fibroblasts by cocultivation with normal fibroblasts.- The A-T gene does not make a major contribution to familial breast cancer.- Mammography screening for A-T heterozygotes.- IV. Defining the A-T Defect.- Lymphoid V(D)J recombination: accessibility and reaction fidelity in normal and ataxia-telangiectasia cells.- Murine scid cells and human ataxia-telangiectasia cells complement each other’s radiosensitivity.- Ataxia-telangiectasia: defective in a p53-dependent signal transduction pathway.- DNA recombination in the transgenic mouse brain.- V. A-T Variants.- Clinical variants of ataxia-telangiectasia.- Epidemiology of ataxia-telangiectasia in Italy.- Epidemiology of ataxia-telangiectasia in Costa Rica.- Clinical and cellular heterogeneity in ataxia-telangiectasia.- VI. Overviews.- Biochemical defects in ataxia-telangiectasia.- Radiobiology of ataxia-telangiectasia.- Treatment of ataxia-telangiectasia.